ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.607A>T (p.Thr203Ser)

dbSNP: rs2137452820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968180 SCV002246970 uncertain significance Hereditary breast ovarian cancer syndrome 2021-03-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 203 of the BRCA2 protein (p.Thr203Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002352659 SCV002659888 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-01 criteria provided, single submitter clinical testing The p.T203S variant (also known as c.607A>T), located in coding exon 6 of the BRCA2 gene, results from an A to T substitution at nucleotide position 607. The threonine at codon 203 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770321 SCV005381560 uncertain significance not specified 2024-08-02 criteria provided, single submitter clinical testing

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